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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PHKA1

Variant:p.Y511insFs

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PHKA1

NM_002637.4:p.Y511insFs

hg38:chrX:72636314 T>TA

Associated Papers

PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.

Koch RL et al.

Npj Genomic Medicine, 2025

41213961 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."